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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP5MK

Variant:p.N29_C30Splc

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ATP5MK

NM_001206427.2:p.N29_C30Splc

hg38:chr10:103392368 T>C

Associated Papers

Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.

Al Masseri Z et al.

American Journal of Medical Genetics. Part A, 2026

40913360 (PubMed )

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